Allele Registry

Canonical Allele Identifier: PA282320

Gene: ELN HGNC NCBI

ClinVar RCV:

RCV000036524

RCV000264113

RCV000319237

RCV000486869

RCV002526645

ClinVar Variation:

43582

422996

HGVS (amino-acid)	Matching Registered Transcripts
NP_000492.2:p.Gly422Ser	CA282319 NM_000501.4:c.1264G>A CA16618559 NM_000501.4:c.1263_1264delinsCA